GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 14901 - 14925 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:1184
  • nephrotic syndrome
Homo sapiens (human)
DOID:0111451
  • progressive myoclonus epilepsy 8
  • Aliases:
    • EMP8
    • PME type 8
    • progressive myoclonic epilepsy due to CERS1 deficiency
    • progressive myoclonus epilepsy type 8
Homo sapiens (human)
DOID:0111369
  • hyperalphalipoproteinemia 1
  • Aliases:
    • HALP1
Homo sapiens (human)
DOID:0111210
  • autosomal dominant distal hereditary motor neuronopathy 6
  • Aliases:
    • HMN IID
    • HMN2D
    • distal hereditary motor neuronopathy type 2D
    • distal hereditary motor neuropathy type IID
    • distal spinal muscular atrophy with calf predominance
Mus musculus (house mouse)
DOID:0110501
  • autosomal recessive nonsyndromic deafness 44
  • Aliases:
    • DFNB44
    • autosomal recessive deafness 44
Homo sapiens (human)
DOID:0080432
  • developmental and epileptic encephalopathy 60
  • Aliases:
    • DEE60
    • early infantile epileptic encephalopathy 60
Homo sapiens (human)
DOID:0080352
  • X-linked chondrodysplasia punctata 2
  • Aliases:
    • Conradi-Hunermann Syndrome
    • Happle syndrome
Homo sapiens (human)
DOID:0111865
  • MEND syndrome
  • Aliases:
    • male EBP disorder with neurological defects
Homo sapiens (human)
DOID:2581
  • chondrodysplasia punctata
  • Aliases:
    • Chondrodysplasia punctata congenita
Homo sapiens (human)
DOID:0060292
  • X-linked chondrodysplasia punctata 1
  • Aliases:
    • chondrodystrophia calcificans congenita
Homo sapiens (human)
DOID:12894
  • Sjogren's syndrome
  • Aliases:
    • Sicca syndrome
    • Sjogren syndrome
    • xerodermosteosis
Homo sapiens (human)
DOID:0080144
  • childhood acute lymphocytic leukemia
  • Aliases:
    • Childhood Acute Lymphoblastic Leukemia
Homo sapiens (human)
DOID:0070051
  • autosomal dominant intellectual developmental disorder 21
  • Aliases:
    • MRD21
    • autosomal dominant mental retardation 21
    • autosomal dominant non-syndromic intellectual disability 21
Homo sapiens (human)
DOID:8923
  • skin melanoma
  • Aliases:
    • cutaneous melanoma
    • malignant ear melanoma
    • malignant lip melanoma
    • malignant lower limb melanoma
    • malignant melanoma of ear and/or external auricular canal
    • malignant melanoma of skin of lower limb
    • malignant melanoma of skin of trunk except scrotum
    • malignant melanoma of skin of upper limb
    • malignant neck melanoma
    • malignant scalp melanoma
    • malignant trunk melanoma
    • malignant upper limb melanoma
Homo sapiens (human)
DOID:3151
  • skin squamous cell carcinoma
  • Aliases:
    • Epidermoid skin carcinoma
Homo sapiens (human)
DOID:2513
  • basal cell carcinoma
  • Aliases:
    • Basal cell cancer
    • Basal cell carcinoma of skin
    • Basal cell neoplasm
    • Basal cell tumor
    • Epithelioma basal cell
    • Rodent ulcer
    • malignant Basal cell neoplasm
    • malignant basal cell tumor
Homo sapiens (human)
DOID:0050671
  • female breast cancer
Homo sapiens (human)
DOID:418
  • systemic scleroderma
  • Aliases:
    • Scleroderma
    • Scleroderma syndrome
    • progressive systemic sclerosis
    • systemic sclerosis
Homo sapiens (human)
DOID:3119
  • gastrointestinal system cancer
  • Aliases:
    • GI tumor
    • digestive system cancer
    • gastrointestinal tract cancer
Homo sapiens (human)
DOID:0070383
  • developmental and epileptic encephalopathy 97
  • Aliases:
    • DEE97
    • early infantile epileptic encephalopathy 97
Homo sapiens (human)
DOID:225
  • syndrome
Mus musculus (house mouse)
DOID:0060781
  • congenital secretory sodium diarrhea 3
  • Aliases:
    • congenital secretory sodium diarrhea 3 syndromic
    • congenital secretory sodium diarrhea 3 with or without other congenital anomalies
    • congenital secretory sodium diarrhoea 3
    • congenital secretory sodium diarrhoea 3 syndromic
    • congenital secretory sodium diarrhoea 3 with or without other congenital anomalies
Homo sapiens (human)
DOID:13608
  • biliary atresia
  • Aliases:
    • Atresia of bile duct
    • Congenital biliary atresia
    • biliary atresia, congenital
Homo sapiens (human)
DOID:0050889
  • non-syndromic intellectual disability
Mus musculus (house mouse)
DOID:0081188
  • autosomal recessive intellectual developmental disorder 14
Mus musculus (house mouse)

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Last updated: December 9, 2024